Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elias O. Silva"'
Autor:
Gerson Carakushanky, Antonio Richieri-Costa, Elias O. Silva, Nivaldo Alonso, Decio Brunoni, Denise P. Cavalcanti, Luis Garcia Alonso, Maria Rita Passos-Bueno, Alessandra Splendore, Alberto Rosa
Publikováno v:
Human Mutation. 16:315-322
Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing. Pathogenic mutations were detected in 26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23501531a4b6fa18e439c65d34c8977e
https://doi.org/10.1002/1098-1004(200010)16:4<315::aid-humu4>3.0.co
https://doi.org/10.1002/1098-1004(200010)16:4<315::aid-humu4>3.0.co
Autor:
Jacquelyn, Bond, Emma, Roberts, Kelly, Springell, Sofia B, Lizarraga, Sophia, Lizarraga, Sheila, Scott, Julie, Higgins, Daniel J, Hampshire, Ewan E, Morrison, Gabriella F, Leal, Elias O, Silva, Suzana M R, Costa, Diana, Baralle, Michela, Raponi, Gulshan, Karbani, Yasmin, Rashid, Hussain, Jafri, Christopher, Bennett, Peter, Corry, Christopher A, Walsh, C Geoffrey, Woods
Publikováno v:
Nature Genetics. 37:353-355
Autosomal recessive primary microcephaly is a potential model in which to research genes involved in human brain growth. We show that two forms of the disorder result from homozygous mutations in the genes CDK5RAP2 and CENPJ. We found neuroepithelial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7817badc142d0e7605a820521069b79d
https://doi.org/10.1038/ng1539
https://doi.org/10.1038/ng1539
Autor:
Elias O. Silva
Publikováno v:
American journal of medical genetics. Part A. (2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fdc8c220004e372faa3f87122176ea1
https://pubmed.ncbi.nlm.nih.gov/12567422
https://pubmed.ncbi.nlm.nih.gov/12567422
Autor:
Alessandra Splendore, Elias O. Silva, Luís G. Alonso, Antônio Richieri-Costa, Nivaldo Alonso, Alberto Rosa, Gerson Carakushanky, Denise P. Cavalcanti, Décio Brunoni, Maria Rita Passos-Bueno
Publikováno v:
Human mutation. 16(4)
Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing. Pathogenic mutations were detected in 26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdfa0ef3d7a264ee778273bd19a48d2e
https://pubmed.ncbi.nlm.nih.gov/11013442
https://pubmed.ncbi.nlm.nih.gov/11013442